Mosaicism for deletion 17p11.2 in a boy with the Smith‐Magenis syndrome

Finucane, Brenda; Kurtz, Michael B.; Babu, V. Ramesh; Scott, Charles I.

doi:10.1002/ajmg.1320450410

Cited by 24 publications

(15 citation statements)

References 4 publications

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“…2). As indicated in Table 1 (Finucane et al, 1993;Juyal et al, 1995). This patient was originally reported as mosaic for del( 17)p 11.2 by routine G-banding analysis, but FISH analysis revealed a dele tion in all cells.…”

Section: Phenotypic Analysis O F Patients With Del( 17)(pi 12)mentioning

confidence: 85%

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Definition of the critical interval for Smith-Magenis syndrome

Elsea

Purandare²,

Adell³

et al. 1997

Cytogenet Genome Res

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Smith-Magenis syndrome (SMS) comprises a complex physical and behavioral phenotype that is associated with an interstitial deletion of chromosome 17p11.2. The deletions observed in patients can range from <2 to >9 megabases of DNA and may include more than 100 genes. In order to determine the critical deletion interval responsible for the syndrome phenotype, we have examined several patients with varying deletions involving 17p11.2 by somatic cell hybrid analyses. We have binned 112 markers along 17p11.2, including 27 markers within the critical interval for SMS, which is bound proximally by D17S29 and distally by cC117–638. In addition, we present two patients who carry deletions involving 17p11.2 but do not exhibit the typical features of SMS. Patients such as these will allow genotype:phenotype correlations to be made and the gene(s) responsible for the SMS phenotype to be determined.

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Section: Phenotypic Analysis O F Patients With Del( 17)(pi 12)mentioning

confidence: 85%

“…diagnosis of mosaicism in a true deletion case (Finucane et al, 1993;Juyal et al, 1995;Juyal et al, 1995; and therefore, result in incorrect diagnoses. While the common SMS deletion is estimated to be 4-5 Mb.…”

Section: Discussionmentioning

confidence: 99%

Definition of the critical interval for Smith-Magenis syndrome

Elsea

Purandare²,

Adell³

et al. 1997

Cytogenet Genome Res

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“…A comparison of mosaic deletion 17p11.2 patients is presented in Table I. Based on karyotype analysis, mosaicism was initially thought to be the case in three reports [Finucane et al, 1993;Juyal et al, 1995;Hou, 2003], but further studies revealed that the deletion was present in 100% of cells.…”

Section: Discussionmentioning

confidence: 99%

Mosaic microdeletion of 17p11.2–p12 and duplication of 17q22–q24 in a girl with Smith–Magenis phenotype and peripheral neuropathy

Goh

Banwell

Stavropoulos

et al. 2013

American J of Med Genetics Pt A

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We report on a girl with a de novo mosaic derivative chromosome 17 involving a 7.4 Mb deletion of chromosome region 17p11.2 to 17p12 and a duplication of a 12.35 Mb region at 17q22 to 17q24. She was ascertained because of developmental delay, peripheral neuropathy, brachydactyly and minor anomalies. The derivative chromosome was present in approximately 12% of lymphocytes based on FISH studies, and was detected by array comparative genomic hybridization. To our knowledge, this is the third case of mosaicism involving deletion of the 17p11.2 region and the lowest level of mosaicism reported in a patient with Smith-Magenis syndrome (SMS).

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“…To our knowledge, only 23 such cases have been reported. They include mosaicism for duplications [Harrod et al, 1980;Cantu and Ruiz, 1986;Serotkin et al, 1988;Blouin et al, 1991;Jewell et al, 1992;Dixon et al, 1993;Gardner et al, 1994], deletions [Wilson and Lin, 1988;Ritter et al, 1990;Patel et al, 1992;D'Alessandro et al, 1992;Finucane et al, 1993;Gordon et al, 1993;Sybert, 1994], insertions [Nielsen et al, 1978], isochromosomes [Robinow et al, 1989;Stanley et al, 1993;Sybert, 1994], and derivative chromosomes [Tsien et al, 1991;Powell et al, 1991;Pelligrino et al, 1995].…”

Section: Discussionmentioning

confidence: 99%